Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion.
Patrick R BlackburnDavid P DouglassRaghu H RamakrishnaiahCorey O MontgomeryZonggao ShiDavid A WheelerSelene C KooPublished in: Genes, chromosomes & cancer (2023)
Congenital/neonatal bone neoplasms are extremely rare. We present the case of a patient with a neonatal bone tumor of the fibula that had osteoblastic differentiation and a novel PTBP1::FOSB fusion. FOSB fusions are described in several different tumor types, including osteoid osteoma and osteoblastoma; however, these tumors typically present in the second or third decade of life, with case reports as young as 4 months of age. Our case expands the spectrum of congenital/neonatal bone lesions. The initial radiologic, histologic, and molecular findings supported the decision for close clinical follow-up rather than more aggressive intervention. Since the time of diagnosis, this tumor has undergone radiologic regression without treatment.